ClinGen Allele Registry
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Canonical Allele Identifier:
PA915961386
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133129
ClinVar RCV Id:
RCV000119614
RCV001588945
RCV001854581
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu13Arg
CA024414
NM_001042723.2:c.38T>G